Variant report

Variant	rs6003537
Chromosome Location	chr22:23517787-23517788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr22:23517770-23517823	K562	blood:	n/a	n/a
2	THAP1	chr22:23517734-23518477	K562	blood:	n/a	n/a
3	GATA2	chr22:23517735-23520273	K562	blood:	n/a	chr22:23519781-23519797 chr22:23519504-23519521 chr22:23519508-23519518 chr22:23519903-23519916 chr22:23519500-23519510
4	CEBPB	chr22:23517150-23518332	K562	blood:	n/a	n/a
5	SETDB1	chr22:23517474-23520050	K562	blood:	n/a	n/a
6	CBX3	chr22:23517679-23520245	K562	blood:	n/a	n/a
7	CBX3	chr22:23517694-23520440	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:23516682..23520309-chr22:23521388..23525029,5	MCF-7	breast:
2	chr22:23515216..23517870-chr9:133765579..133768259,2	K562	blood:

Variant related genes	Relation type
BCR	TF binding region
ENSG00000236794	Chromatin interaction
ENSG00000186716	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12157412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12157536	1.00[AMR][1000 genomes]
rs12157941	1.00[AMR][1000 genomes]
rs12158986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12159557	0.92[AFR][1000 genomes]
rs12159793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12160027	1.00[AMR][1000 genomes]
rs12160099	1.00[AMR][1000 genomes]
rs2330366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996469	1.00[AMR][1000 genomes]
rs5996472	1.00[AMR][1000 genomes]
rs5996477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003521	1.00[AMR][1000 genomes]
rs6003522	1.00[AMR][1000 genomes]
rs6003523	1.00[AMR][1000 genomes]
rs6003524	1.00[AMR][1000 genomes]
rs6003526	1.00[AMR][1000 genomes]
rs6003528	1.00[AMR][1000 genomes]
rs6003530	1.00[AMR][1000 genomes]
rs6003538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003540	1.00[AMR][1000 genomes]
rs6003541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003544	1.00[AFR][1000 genomes]
rs6003545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003628	1.00[AMR][1000 genomes]
rs9620237	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
2	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	100 gene(s)	inside rSNPs	diseases
3	nsv531799	chr22:22993679-23642142	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
4	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
9	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
10	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
11	nsv1067002	chr22:23007167-23643363	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
12	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
13	nsv533839	chr22:23012013-23643223	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
14	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
15	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	92 gene(s)	inside rSNPs	diseases
16	nsv531802	chr22:23046186-23627391	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	diseases
17	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
18	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
19	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
20	nsv948942	chr22:23063178-23645718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
21	nsv1063200	chr22:23097177-23643224	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
22	nsv949250	chr22:23157485-23645718	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
23	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
24	nsv1058604	chr22:23497533-23545751	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23490400-23522000	Weak transcription	Aorta	Aorta
2	chr22:23492400-23518000	Weak transcription	Esophagus	oesophagus
3	chr22:23506800-23520600	Weak transcription	Brain Anterior Caudate	brain
4	chr22:23509400-23518000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:23509800-23518200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:23511000-23517800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:23511000-23517800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:23511000-23520800	Weak transcription	Gastric	stomach
9	chr22:23515800-23518000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:23516000-23522000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr22:23516600-23517800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr22:23516600-23517800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr22:23516600-23517800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr22:23516600-23517800	Weak transcription	Fetal Thymus	thymus
15	chr22:23516600-23517800	Weak transcription	K562	blood
16	chr22:23516600-23518000	Weak transcription	Right Atrium	heart
17	chr22:23516600-23518800	Weak transcription	HepG2	liver
18	chr22:23516600-23520600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr22:23516600-23520600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr22:23516800-23517800	Weak transcription	GM12878-XiMat	blood
21	chr22:23516800-23518000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr22:23517000-23521000	Weak transcription	Brain Angular Gyrus	brain
23	chr22:23517400-23517800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:23517400-23519600	ZNF genes & repeats	Placenta	Placenta
25	chr22:23517600-23518400	ZNF genes & repeats	Fetal Stomach	stomach

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